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Genetic screening recommended to detect new neurodegenerative disorder in men over age 50

cellular material in the form of inclusion bodies in the nuclei of brain cells, (specifically neurons and astrocytes) throughout the cortex and brainstem regions. The greatest densities were found in the hippocampus and frontal cortical regions, areas of the brain that control movement and are important in learning, memory and emotion.

"The formation of inclusion bodies in the nuclei of nerve cells offers an important clue about the cause of the disorder, one that may ultimately help with the development of therapies for both FXTAS and fragile X syndrome," said Paul Hagerman. In 2001 the Hagerman team reported the first cases of FXTAS in men and suggested that the neurological dysfunctions could be due to the elevated levels of messenger RNA from the FMR1 gene mutation, which are consistently observed in the blood of premutation carriers. As a result, they proposed the hypothesis that FXTAS results from an RNA toxic gain-of-function.

"Further study of these cellular processes can lead to a better understanding of the mechanisms leading to fragile X syndrome and may offer new targets for developing treatments," Paul Hagerman said. In addition, because some carriers of the premutation develop FXTAS while others appear protected, other factors also may play a role in disease development, offering additional clues to the origin of this disorder.


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Contact: Carole Gan
916-762-2089
University of California, Davis - Health System
27-Jan-2004


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